Cornelia de Lange Syndrome
Case Report Two novel NIPBL mutations in three Chinese neonates with Cornelia de Lange syndrome identified by disease-associated genome panel
... CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernandez-Marcos M, Teresa-Rodri- go ME, Marcos-Alcalde I, Wesselink JJ, Lusa- Bernal S, Bijlsma EK, Braunholz D, Bueno- Martinez I, Clark D, Cooper NS, Curry CJ, ...
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Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
... Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex ...in Cornelia de Lange Syndrome as such ...
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Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome
... ABSTRACT Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and ...
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Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
... Background: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic ...
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Lifespan trajectory of affect in Cornelia de Lange syndrome : towards a neurobiological hypothesis
... Cornelia de Lange syndrome (CdLS) is a cohesinopathy associated with ID with an estimated prevalence of 1:10, 000 – 1:80,000 ...this syndrome has clear clinical significance and there ...
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Temporal Bone CT Findings in Cornelia de Lange Syndrome
... of Cornelia de Lange syndrome are not specific, various congenital abnormalities manifested with combined external, middle, and inner ear abnormalities should be included in the differential ...
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Cornelia de Lange Syndrome: Evolution of the Phenotype
... by the age of 21 months she had developed the.. 834 CORNELIA DE LANGE SYNDROME. Fic. Patient at 8 months of age. classical phenotype of having the CdL syn-[r] ...
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A case of Cornelia de Lange syndrome from Sudan
... Brachmann de Lange Syndrome (BDLS) [1], also known as Cornelia de Lange syndrome [2] or Brachmann Cor- nelia de Lange syndrome is a dominantly ...
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Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
... This study has addressed questions about the domain asynchrony and syndrome-related executive functioning in CdLS and DS. Three dimensions of executive func- tioning, flexibility/task-switching, inhibition and ...
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
... Variants in the known CdLS genes. We undertook genomic stud- ies in a cohort of Turkish subjects clinically diagnosed with CdLS. All studies were performed on the DNA samples extracted from the peripheral blood of the ...
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Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein Taybi syndrome
... stimuli have previously used participant groups with well-defined socio-behavioural characteristics, such as ASD and Williams syndrome. As the social behaviour of CdLS and RTS is comparatively under-researched, it ...
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An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
... Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type ...Giedion syndrome (LGS) or TRPS type II is a contiguous gene syndrome on ...
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The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome
... is observed in CdLS patients [19, 73]. It was found that Nipbl+/− MEFs exhibit dysregulated expression of sev- eral genes involved in adipocyte differentiation and re- duced spontaneous adipocyte differentiation in vitro ...
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An experimental study of executive function and social impairment in Cornelia de Lange syndrome
... Interestingly, both social anxiety and sociability reported in CdLS may be dependent on the demands of the social situation presented. Richards and colleagues [19] investigated the behavioural presentation of social ...
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Immunologic Features of Cornelia de Lange Syndrome
... antibody de fi ciency is overrepresented in the CdLS ...marked de- velopmental delay, dysmorphic facial fea- tures, severe gastroesophageal re fl ux disease, and limb abnormalities (3 of 9 patients had a con ...
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Key words
... Cornelia de Lange syndrome (CdLS, also called Brachmann-de Lange syndrome – BdLS) is a multisystem devel- opmental disorder characterized by distinctive facial features, ...
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De novo duplication 3q in an infant with a vascular ring and features overlapping Cornelia de Lange phenotype
... [16] Krantz, I.D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L.A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C.A., Nowaczyk, M.J., Toriello, H., Bamshad, M.J., Carey, J.C., Rappaport, E., ...
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Diverse profiles of anxiety related disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi syndromes
... Lesch–Nyhan syndrome, aggression in Angel- man syndrome and excessive friendliness in Williams syn- drome (see Waite et ...Williams syndrome, 22q11.2 deletion, fragile X (FXS) and Cornelia ...
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Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes
... genetic syndrome groups, including AS (34% [17]) and Cornelia de Lange syndrome (CdLS, 43% [17]), and it has been noted that having a genetic syndrome itself increases the ...
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Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children
... years, Cornelia de Lange syndrome(CdLS; OMIM 122470,614,701,610,759,300,590,300,882)is a well-described congenital multiple malformation dis- ...
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